A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv830054



Internal ID15777324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80618785..80763773hg38UCSC Ensembl
Innerchr14:81085129..81230117hg19UCSC Ensembl
Innerchr14:80154882..80299870hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38144989
hg19144989
hg18144989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565290
Supporting Variants
Samples
Known GenesCEP128
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv830054
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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